Combined factor V and factor VII deficiency due to an independent segregation of the two defects

Citation
A. Girolami et al., Combined factor V and factor VII deficiency due to an independent segregation of the two defects, CL APPL T-H, 5(2), 1999, pp. 136-138
Citations number
16
Categorie Soggetti
Hematology
Journal title
CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS
ISSN journal
10760296 → ACNP
Volume
5
Issue
2
Year of publication
1999
Pages
136 - 138
Database
ISI
SICI code
1076-0296(199904)5:2<136:CFVAFV>2.0.ZU;2-#
Abstract
A patient with combined factor V and factor VII deficiency is described tog ether with a family study. The propositus appeared to be double heterozygou s for factor V and factor VII deficiency. Since the patient showed a parall el decrease of activity and antigen, he appeared to be double heterozygous for a true deficiency. The patient had inherited the factor V defect from t he mother and the factor VII defect from the father. The parents of the pro positus were not consanguineous. Other family members were found to have is olated factor V or factor VII deficiency. This is the third family so far d escribed with this peculiar combined defect but the first to be investigate d by clotting and immunologic assays.